Canonical Allele Identifier: PA2828421465
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49443
ClinVar RCV Id: RCV000042703 RCV003626600
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asp1647His
CA021629
NM_001370405.1:c.4939G>C